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Genetics of essential tremor Deng H; Le W; Jankovic JBrain 2007[Jun]; 130 (Pt 6): 1456-64Essential tremor (ET), the cause of which remains poorly understood, is one of the most common neurological disorders. While environmental agents have been proposed to play a role, genetic factors are believed to contribute to its onset. Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder. In addition, a Ser9Gly variant in the dopamine D3 receptor gene on 3q13 has been suggested to be a risk factor. Moreover, genetically deficient animal models express a phenotype that overlaps with some clinical characteristics of the human form of the illness. Further analyses of these genetic abnormalities may lead to the identification of causative mutations and a better understanding of the molecular mechanisms in this common movement disorder.|Adolescent[MESH]|Adult[MESH]|Aged[MESH]|Animals[MESH]|Disease Models, Animal[MESH]|Dystonia/genetics[MESH]|Essential Tremor/*genetics[MESH]|Female[MESH]|Genetic Predisposition to Disease[MESH]|Humans[MESH]|Male[MESH]|Middle Aged[MESH]|Mutation[MESH]|Parkinson Disease/genetics[MESH]|Receptors, Dopamine D3/genetics[MESH]|Risk Factors[MESH] |
